Intermittent Acute Porphyria

Hooda, Ashok K; Madan, Hemant; Harneja, H S; Deoskar, RB; Kataria, Vandana

doi:10.1016/s0377-1237(17)30838-9

Cited by 1 publication

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“…Another case of AIP in a young male diagnosed on the basis of clinical symptoms, a high urinary PBG and δ amino levulinic acid (ALA) has been reported [42]. Two cases of AIP in 35 yr old males based on clinical symptoms and urinary presence of PBG have also been reported [43,44]. A case of Doss Porphyria based upon urinary ALA has been reported in a 10 year old male from western Nepal [45].…”

Section: Resultsmentioning

confidence: 99%

Case reports of metabolic disorders from Nepal

Pandey

2019

Molecular Genetics and Metabolism Reports

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BackgroundThe prevalence of metabolic disease in Nepal is largely unknown. Some consideration has been given by the nepalese government for high prevalence of congenital disorders in some populations, but disorders due to enzymatic deficiencies have not been considered as a class of diseases where timely diagnosis and intervention might be possible. No case for these disorders has been made so far, however, findings of many rare metabolic diseases have been reported in literature by the nepalese medical fraternity.MethodsA search for case reports on metabolic disorders listed according to International Classification of Diseases −11 was performed using the google search engine.ResultsA total of 443 cases have been discovered presented in the literature. This does not include disorders that might be due to lifestyle and behaviour. Most of the reported cases have been identified based on clinical acumen, radiological and histopathological findings.ConclusionsGlucose 6 phosphate dehydrogenase deficiency, Wilson's disease and lysosomal disorders should be considered for early diagnosis through newborn screening along with the acknowledged disorders hypothyroidism and hemoglobinopathies in Nepal. Early intervention in these disorders can significantly reduce morbidity and mortality in infancy.

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Section: Resultsmentioning

confidence: 99%

Case reports of metabolic disorders from Nepal

Pandey

2019

Molecular Genetics and Metabolism Reports

View full text Add to dashboard Cite

show abstract

Intermittent Acute Porphyria

Cited by 1 publication

References 5 publications

Case reports of metabolic disorders from Nepal

Case reports of metabolic disorders from Nepal

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